HTA on neonatal screening for rare metabolic disorders faced misconceptions and blurred objectivity

Autti-Rämö

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• Publié par: biomed
• Publié le: 01 janvier 2012
• Nombre de lectures: 2
• Langue: English

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Autti-Rämö Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A17
http://www.ojrd.com/content/7/S2/A17
MEETING ABSTRACT Open Access
HTA on neonatal screening for rare metabolic
disorders faced misconceptions and blurred
objectivity
Ilona Autti-Rämö
From 6th European Conference on Rare Diseases and Orphan Products
Brussels, Belgium. 23-25 May 2012
Background with a rare metabolic disorder per year in Finland. The
The genetic background of the Finnish population has annual birth rate in Finland is approximately 56000.The
led to a unique epidemiology for some the rare hereditary national screening organization has discussed the topic at
disorders. In particular the incidence of PKU-is very low, 17 meetings during 2003-2012, the chairpersons and com-
less than 1:100000. Finland has screened only for conge- mittee members have changed. Seminars and workshops
nital hypothyroidism from cord blood since 1984. A pro- with content experts have been organized to answer the
posal to start a pilot study on screening with MS/MS identified critical questions, yet more information was
with the cost estimation of 1-3€/newborn necessitated a needed. A national pilot study was withdrawn; a local fea-
Health technology assessment (HTA). In this article the sibility study was conducted. An HTA report on PKU
major problems encountered during the assessment pro- screening when neither parent is of Finnish origin was
cess and thereafter are presented. conducted in 2008 [3].
Material and methods Conclusions
The original HTA project started form identifying the pos- The original assumptions on costs were fictional. A con-
sible disorders to be screened for Finland, evaluating the tinuous conversation with the screening committee and
possible costs of building up the screening organization, the content experts has been necessary and understanding
cost-effectiveness, organizational and ethical consequences the complexity and consequences of the decision increased
[1,2]. The original documents from the HTA project and during the years. The ongoing changes in structuring
from the national screening committee at the ministry of health and social care and the planned changes in legisla-
social affairs and health were used. tion affect how national screening programs can be imple-
mented. Screening for metabolic disorders in newborn has
Results so far not yet been expanded.
Lacking reliable data on incidence, natural course of the
possible disorders, sensitivity and specificity of the screen-
Published: 22 November 2012
ing tests, effect of early diagnosis and early treatment
raised many ethical questions. It became evident that a References
thorough ethical evaluation was needed to answer ques- 1. Autti-Rämö I, Laajalahti L, Koskinen H, Sintonen H, Mäkelä M: Screening for
rare metabolic dises in newborn infants. Finohta report 22/2204 .tions like “Can infants become the focus of research to
2. Autti-Rämö I, Mäkelä M, Sintonen H, Koskinen H, Laajalahti L, Halila R,
answer the unknown? When is it acceptable to screen for Kääriäinen H, Lapatto R, Näntö-Salonen K, Pulkki K, Renlund K, Salo M,
many to find a few?”. Modeling a screening organization Tyni T: Expanding screening for rare metabolic diseases in the newborn:
An analysis of costs, effect and ethical consequences for decisiondoes not guarantee that it will work in real life but the esti-
making in Finland. Acta Paediatr 2005, 94:1126-1136.
mated costs were 45€/newborn for finding 5-10 children 3. Leipälä J, Saalasti-Koskinen U, Blom M, Autti-Rämö I, Gissler M,
Hämäläinen E, Paganus A, isojärvi J, Kääriäinen H, Renlund M, Mäkelä M:
Fenylketonurian seulonta Suomessa (Screening for phenylketonuria in
Finland). Finohta; 2008.Correspondence: [e-mail]
The Social Institution, Research Department, Finland
© 2012 Autti-Rämö; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons
Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in
any medium, provided the original work is properly cited.Autti-Rämö Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A17 Page 2 of 2
http://www.ojrd.com/content/7/S2/A17
doi:10.1186/1750-1172-7-S2-A17
Cite this article as: Autti-Rämö: HTA on neonatal screening for rare
metabolic disorders faced misconceptions and blurred objectivity.
Orphanet Journal of Rare Diseases 2012 7(Suppl 2):A17.
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